United Kingdom NF2-related schwannomatosis genetic severity score

United Kingdom NF2-related schwannomatosis genetic severity score

Genetic severity	Subcategory	Clinical characteristics	Definition
1: Tissue mosaic	1A	Presumed tissue mosaicism	Meets clinical criteria for sporadic NF2 but not confirmed molecularly with identical NF2 pathogenic variants detected in 2 separate tissue samples
1: Tissue mosaic	1B	Confirmed tissue mosaicism	Mosaic NF2 confirmed molecularly with identical NF2 pathogenic variants detected in 2 or more separate tissue samples
2: Classic	2A	Mild NF2	Full or mosaic NF2 pathogenic variant identified in blood (excluding those found in groups 2B or 3): Missense variants In-frame deletions and duplications Deletions involving the promoter region or exon 1 Splice site variants in exons 8 to 15 Truncating variants of exon 1 Mosaicism in blood for variants other than truncating variants in exons 2 to 13 Inherited NF2 but no NF2, SMARCB1, or LZTR1 pathogenic variants identified in blood
2: Classic	2B	Moderate NF2	Full or mosaic NF2 pathogenic variant identified in blood including: Splicing variant involving exons 1 to 7 Large deletion not including the promoter or exon 1 Truncating variants in exons 14 to 15 Mosaic in blood for a truncating variant in exons 2 to 13
3: Severe	3	Severe NF2	Full NF2 truncating variant exons 2 to 13

NF2: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; NF2: NF2-related schwannomatosis; SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; LZTR1: leucine zipper like transcription regulator 1.

From: Halliday D, Emmanouil B, Pretorius P, et al. Genetic Severity Score predicts clinical phenotype in NF2. J Med Genet 2017; 54:657. Copyright © 2017 The Authors (or their employers). Reproduced with permission from BMJ Publishing Group Ltd.

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United Kingdom NF2-related schwannomatosis genetic severity score